ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)

dbSNP: rs1575320216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987259 SCV001136509 pathogenic Hepatocellular carcinoma 2019-05-28 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796335 SCV005416105 pathogenic Severe intellectual disability-progressive spastic diplegia syndrome criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PS4_Supporting+PS2_Supporting

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